Entity Details

Primary name ELMOD3
Entity type gene
Source Source Link

Details

PrimaryID84173
RefseqGeneNG_051291
SymbolELMOD3
NameELMO domain containing 3
Chromosome2
Location2p11.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsELMD3_HUMAN

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0032420 stereocilium
GO:0043547 positive regulation of GTPase activity
GO:0060091 kinocilium

Diseases

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Disease IDSourceNameDescription
615429 OMIMDeafness, autosomal recessive, 88 (DFNB88)A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. The disease is caused by variants affecting the gene represented in this entry.